MX1 Gene - MX Dynamin Like GTPase 1
Interferon-induced GTP-binding protein Mx1: Antiviral defense and disease associations
Gene Information Card
| Symbol | MX1 |
|---|---|
| Full Name | MX Dynamin Like GTPase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 4599 ncbi.nlm.nih.gov/gene/4599 |
| Ensembl ID | ENSG00000157601 |
| UniProt ID | P20591 |
| OMIM ID | 147150 |
| HGNC ID | 7532 |
| Aliases | IFI-78K, MxA, MX, Mx1 |
Description
The MX1 gene encodes a member of the dynamin superfamily of large GTPases. This interferon-induced protein localizes to the cytoplasm and exhibits antiviral activity against a broad range of RNA viruses, including influenza A virus, vesicular stomatitis virus, and Thogoto virus. The protein forms oligomers and associates with cellular membranes to inhibit viral replication. MX1 is a key component of the innate immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Influenza A infection | MX1 restricts influenza A virus replication by inhibiting viral polymerase activity and blocking nuclear import of viral ribonucleoproteins. | PMID: 16973595; NCBI Gene |
| Primary biliary cholangitis (PBC) | MX1 overexpression in biliary epithelial cells is associated with interferon signaling and autoimmune-mediated bile duct damage. | PMID: 21934123; OMIM 147150 |
| Systemic lupus erythematosus (SLE) | Elevated MX1 expression is a biomarker of type I interferon activity in SLE patients. | PMID: 12867511; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Spleen | 8.7 | Medium |
| Whole blood | 6.5 | Low |
| Liver | 4.2 | Low |
| Heart | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.1 | Interferon-inducible |
| HeLa (cervical carcinoma) | 9.8 | Basal expression |
| HepG2 (hepatocellular carcinoma) | 5.3 | Low basal |
| THP-1 (monocytic leukemia) | 22.4 | High after IFN stimulation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; likely loss of function |
| c.1012C>T (p.Arg338Trp) | missense | 0.02% | Reduced GTPase activity; impaired antiviral response |
| c.1681G>A (p.Gly561Arg) | missense | 0.01% | Altered oligomerization; decreased antiviral activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt GTP binding or oligomerization (e.g., p.Arg338Trp) impair antiviral activity.
Gain of Function (GOF)
Not reported in MX1.
Dominant Negative (DN)
Some missense variants may interfere with wild-type MX1 function via altered oligomerization.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • viral process (GO:0016032) | • defense response to virus (GO:0051607) |
| • cytoplasm (GO:0005737) |
Pathways
• Interferon alpha/beta signaling (Reactome R-HSA-909733)
• Influenza A virus life cycle (Reactome R-HSA-168254)
• Innate immune system (Reactome R-HSA-168249)
Protein Summary
MX1 is a 76 kDa interferon-induced GTPase that forms helical oligomers around cellular membranes. It inhibits a broad range of RNA viruses by trapping viral nucleocapsids and preventing their nuclear import or replication complex assembly. The protein is composed of an N-terminal GTPase domain, a middle domain, and a C-terminal GTPase effector domain (GED). MX1 is predominantly cytoplasmic but can relocalize to membranes upon activation. Its expression is tightly regulated by type I and type III interferons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMX1 Knockout HEK293 Cell Line | EDJ-KQ2608 | Human | 2016 | Details Get a Quote |
| MX1 Knockout HEK293 Cell Line | EDJ-KQ3931 | Human | 4599 | Details Get a Quote |
| LMX1A Knockout HEK293 Cell Line | EDJ-KQ5132 | Human | 4009 | Details Get a Quote |
| LMX1B Knockout HEK293 Cell Line | EDJ-KQ5138 | Human | 4010 | Details Get a Quote |
| TMX1 Knockout HEK293 Cell Line | EDJ-KQ9703 | Human | 81542 | Details Get a Quote |
| MX1 Knockout HeLa Cell Line | EDJ-KQ26169 | Human | 4599 | Details Get a Quote |
| EMX1 Knockout HCT 116 Cell Line | EDJ-KQ23324 | Human | 2016 | Details Get a Quote |
| LMX1B Knockout HCT 116 Cell Line | EDJ-KQ26871 | Human | 4010 | Details Get a Quote |
| TMX1 Knockout A-549 Cell Line | EDJ-KQ36477 | Human | 81542 | Details Get a Quote |
| TMX1 Knockout HCT 116 Cell Line | EDJ-KQ36478 | Human | 81542 | Details Get a Quote |
| TMX1 Knockout HeLa Cell Line | EDJ-KQ36479 | Human | 81542 | Details Get a Quote |
| HMX1 Knockout HEK293 Cell Line | EDJ-KQ50355 | Human | 3166 | Details Get a Quote |
| EMX1 Knockout HeLa Cell Line | EDJ-KQ53157 | Human | 2016 | Details Get a Quote |
| HMX1 Knockout HeLa Cell Line | EDJ-KQ53535 | Human | 3166 | Details Get a Quote |
| LMX1A Knockout HeLa Cell Line | EDJ-KQ53799 | Human | 4009 | Details Get a Quote |
Displaying Records 1 To 15 Of 24 Records
